MCID: IMM063
MIFTS: 21

Immunodeficiency 15

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 15

MalaCards integrated aliases for Immunodeficiency 15:

Name: Immunodeficiency 15 57 75 29 6 73
Imd15 57 75
Severe Combined Immunodeficiency Due to Ikk2 Deficiency 59
Scid Due to Ikk2 Deficiency 59
Immunodeficiency, Type 15 40

Characteristics:

Orphanet epidemiological data:

59
severe combined immunodeficiency due to ikk2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death without bone marrow transplantation
four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)


HPO:

32
immunodeficiency 15:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615592
Orphanet 59 ORPHA397787
ICD10 via Orphanet 34 D81.2
MeSH 44 D016511
UMLS 73 C3810043

Summaries for Immunodeficiency 15

OMIM : 57 Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). (615592)

MalaCards based summary : Immunodeficiency 15, is also known as imd15. An important gene associated with Immunodeficiency 15 is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include t cells, b cells and bone, and related phenotypes are failure to thrive and immunodeficiency

UniProtKB/Swiss-Prot : 75 Immunodeficiency 15: An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells.

Related Diseases for Immunodeficiency 15

Symptoms & Phenotypes for Immunodeficiency 15

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Immunology:
agammaglobulinemia
hypogammaglobulinemia
primary immunodeficiency
decreased numbers of nk cells
increased igm (1 patient)
more
Head And Neck Mouth:
candidiasis

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory:
respiratory infections


Clinical features from OMIM:

615592

Human phenotypes related to Immunodeficiency 15:

32
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 immunodeficiency 32 HP:0002721
3 chronic diarrhea 32 HP:0002028
4 agammaglobulinemia 32 HP:0004432
5 respiratory tract infection 32 HP:0011947

Drugs & Therapeutics for Immunodeficiency 15

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 OCT Study of the MGuard Prime Stent in Patients With Heart Attacks Withdrawn NCT02222116 Phase 4

Search NIH Clinical Center for Immunodeficiency 15

Genetic Tests for Immunodeficiency 15

Genetic tests related to Immunodeficiency 15:

# Genetic test Affiliating Genes
1 Immunodeficiency 15 29 IKBKB

Anatomical Context for Immunodeficiency 15

MalaCards organs/tissues related to Immunodeficiency 15:

41
T Cells, B Cells, Bone, Heart, Bone Marrow, Nk Cells

Publications for Immunodeficiency 15

Variations for Immunodeficiency 15

ClinVar genetic disease variations for Immunodeficiency 15:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKB NM_001556.2(IKBKB): c.1292dupG (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh37 Chromosome 8, 42176121: 42176121
2 IKBKB NM_001556.2(IKBKB): c.1292dupG (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh38 Chromosome 8, 42318603: 42318603
3 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh38 Chromosome 8, 42316223: 42316223
4 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh37 Chromosome 8, 42173741: 42173741
5 IKBKB NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs2272736 GRCh38 Chromosome 8, 42319645: 42319645
6 IKBKB NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs2272736 GRCh37 Chromosome 8, 42177163: 42177163
7 IKBKB NM_001556.2(IKBKB): c.1083G> A (p.Leu361=) single nucleotide variant Benign rs56230731 GRCh38 Chromosome 8, 42316862: 42316862
8 IKBKB NM_001556.2(IKBKB): c.1083G> A (p.Leu361=) single nucleotide variant Benign rs56230731 GRCh37 Chromosome 8, 42174380: 42174380
9 IKBKB NM_001556.2(IKBKB): c.1119C> T (p.Asp373=) single nucleotide variant Benign rs140666106 GRCh38 Chromosome 8, 42316898: 42316898
10 IKBKB NM_001556.2(IKBKB): c.1119C> T (p.Asp373=) single nucleotide variant Benign rs140666106 GRCh37 Chromosome 8, 42174416: 42174416
11 IKBKB NM_001556.2(IKBKB): c.1702A> C (p.Arg568=) single nucleotide variant Benign rs151057347 GRCh38 Chromosome 8, 42321909: 42321909
12 IKBKB NM_001556.2(IKBKB): c.1702A> C (p.Arg568=) single nucleotide variant Benign rs151057347 GRCh37 Chromosome 8, 42179427: 42179427
13 IKBKB NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys) single nucleotide variant Uncertain significance rs201052871 GRCh38 Chromosome 8, 42314347: 42314347
14 IKBKB NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys) single nucleotide variant Uncertain significance rs201052871 GRCh37 Chromosome 8, 42171865: 42171865
15 IKBKB NM_001556.2(IKBKB): c.1062G> T (p.Leu354=) single nucleotide variant Likely benign rs145086380 GRCh37 Chromosome 8, 42174359: 42174359
16 IKBKB NM_001556.2(IKBKB): c.1062G> T (p.Leu354=) single nucleotide variant Likely benign rs145086380 GRCh38 Chromosome 8, 42316841: 42316841
17 IKBKB NM_001556.2(IKBKB): c.1338G> A (p.Arg446=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 42318649: 42318649
18 IKBKB NM_001556.2(IKBKB): c.1338G> A (p.Arg446=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 42176167: 42176167
19 IKBKB NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys) single nucleotide variant Benign rs115698972 GRCh37 Chromosome 8, 42176927: 42176927
20 IKBKB NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys) single nucleotide variant Benign rs115698972 GRCh38 Chromosome 8, 42319409: 42319409
21 IKBKB NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp) single nucleotide variant Benign rs140485496 GRCh37 Chromosome 8, 42178280: 42178280
22 IKBKB NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp) single nucleotide variant Benign rs140485496 GRCh38 Chromosome 8, 42320762: 42320762
23 IKBKB NM_001556.2(IKBKB): c.388+9C> T single nucleotide variant Likely benign rs140937081 GRCh37 Chromosome 8, 42151039: 42151039
24 IKBKB NM_001556.2(IKBKB): c.388+9C> T single nucleotide variant Likely benign rs140937081 GRCh38 Chromosome 8, 42293521: 42293521
25 IKBKB NM_001556.2(IKBKB): c.509C> T (p.Ala170Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42163892: 42163892
26 IKBKB NM_001556.2(IKBKB): c.509C> T (p.Ala170Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42306374: 42306374
27 IKBKB NM_001556.2(IKBKB): c.732T> C (p.Val244=) single nucleotide variant Benign rs138978376 GRCh38 Chromosome 8, 42314361: 42314361
28 IKBKB NM_001556.2(IKBKB): c.732T> C (p.Val244=) single nucleotide variant Benign rs138978376 GRCh37 Chromosome 8, 42171879: 42171879
29 IKBKB NM_001556.2(IKBKB): c.738C> T (p.Ser246=) single nucleotide variant Likely benign rs151151310 GRCh38 Chromosome 8, 42314367: 42314367
30 IKBKB NM_001556.2(IKBKB): c.738C> T (p.Ser246=) single nucleotide variant Likely benign rs151151310 GRCh37 Chromosome 8, 42171885: 42171885
31 IKBKB NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg) single nucleotide variant Uncertain significance rs141839189 GRCh38 Chromosome 8, 42319295: 42319295
32 IKBKB NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg) single nucleotide variant Uncertain significance rs141839189 GRCh37 Chromosome 8, 42176813: 42176813
33 IKBKB NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs149701177 GRCh37 Chromosome 8, 42178343: 42178343
34 IKBKB NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs149701177 GRCh38 Chromosome 8, 42320825: 42320825
35 IKBKB NM_001556.2(IKBKB): c.1126-4G> A single nucleotide variant Likely benign rs201394549 GRCh37 Chromosome 8, 42175171: 42175171
36 IKBKB NM_001556.2(IKBKB): c.1126-4G> A single nucleotide variant Likely benign rs201394549 GRCh38 Chromosome 8, 42317653: 42317653
37 IKBKB NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu) single nucleotide variant Uncertain significance rs201869683 GRCh38 Chromosome 8, 42330936: 42330936
38 IKBKB NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu) single nucleotide variant Uncertain significance rs201869683 GRCh37 Chromosome 8, 42188454: 42188454

Expression for Immunodeficiency 15

Search GEO for disease gene expression data for Immunodeficiency 15.

Pathways for Immunodeficiency 15

GO Terms for Immunodeficiency 15

Sources for Immunodeficiency 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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